Michelle Quinlan remembers everything about the day her daughter, Avery, was diagnosed with Coffin-Siris Syndrome.

It was July 4. She was wearing jean shorts and a white top, and she remembers how she felt walking through the parking lot to the clinic. They’ve dubbed it “D-Day.”

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While she remembers everything about that day, it took the Quinlan family seven years to get there. Seven years of giving a “three-paragraph” answer every time a teacher or counselor asked her to tell them about Avery, before finally receiving a diagnosis.

If they’d known sooner, Quinlan concedes that she could have narrowed her focus to what her daughter really needed. Though they knew when she was described as “failure to thrive,” that something was wrong, she explained that if they’d known her diagnosis, she and her family could have had “a sense of closure that we’d done everything we possibly could have done.”

Diagnosing rare diseases

This program will involve a data-sharing pillar that will see DNA data sets shared across provinces to “improve our interpretation” of these diseases, said Dr. Kym Boycott, a clinical geneticist at the Children’s Hospital of Eastern Ontario (CHEO).

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In addition to offering personalized health care based on an individual’s genetic makeup, hospitals and medical institutions will eventually become the safeguards of this information.

This comes just over a year after a computer virus breached hospital systems around the world — including in Canada. It’s important to note that during the pilot, patients can share their data on an opt-in basis.

There are 155 cases of Coffin-Siris Syndrome in the world. It comes with a host of developmental difficulties, making the first four years of a patient’s life extremely difficult. Since receiving Avery’s diagnosis, Quinlan has joined an international support group full of other patients, and in general feels much less alone.

“It was a very changing thing,” said Quinlan. “There are only 155 cases in the world, and I was able to connect with other families worldwide. Actually, four families are right here in Ottawa, and that’s been pretty incredible.”

Data-sharing of health information

Boycott explained that while the pilot program is ready to get underway, the nuances of the data-sharing portion of the program are still being worked out, though they’ll likely follow a provincial health-care model, and hospitals will likely be the keepers of this information.

“This particular database would be housed by a data custodian selected by Genome Canada. Ultimately, when it’s integrated into the health-care system, institutions or provinces will have their own data solutions,” explained Boycott, who’s an adviser on Genome Canada’s precision health-care pilot project.

“I think that means we need to develop these data solutions on a collaborative basis and provincial basis. And when we do that, we should ensure that we have sufficient resources to house it, protect it, use it,” said Boycott.

Cyberattacks at hospitals

Almost this time last year, the globally influential WannaCry virus took over a dozen hospitals offline in the U.K., along with one in Canada. The attack encrypted patient files and asked for users to pay to have them unencrypted. That incident shone a light on hospital cybersecurity, and the often-lacking security systems tasked with guarding thousands of sensitive patient documents and records.

One southern Ontario hospital, Lakeridge Health, was impacted by the attack as well, though the hospital’s firewalls were able to deflect the initial attack.

“These breach risks come out when it’s being done by people without enough experience. Breaches can happen no matter what you do,” explained Boycott. She added that it’s important to develop procedures to prevent breaches like this from happening in the future. Hospitals, however, are well-known targets for data thieves and other malicious actors.

“Unfortunately, hospitals are a magnet for such cyberattacks,” said Bill Tholl, president of HealthCareCAN, an organization representing Canadian hospitals and other health-care bodies, following the WannaCry attack last year.

“To the cyberhackers, health-care information is worth 10 times as much as any information the average Canadian would be providing to a bank.”

He added at the time that the experts insist there are only two kinds of hospitals. “[Those] that have been hacked and know it, and [those] that don’t know that they have been hacked.”

The end goal of this program, explains Genome Canada CEO Marc LePage, would be clinical implementation within three years from today. He explained that a case like Avery’s isn’t unusual, as it can take up to 10 years for patients with rare diseases to get a diagnosis.

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Future of medicine

“The end goal would be, three years from now, any patient in Canada can turn up at a hospital or at their GP and get the appropriate test, and get a diagnosis, which is not the case right now.”

Quinlan now works in the research department of CHEO — in part to give back to the institution for working with Avery, and in part to better understand the cohort of rare-disease patients out there. Thanks to genetic testing, her family can finally identify their daughter’s condition, even if it did take almost a decade. She’s supportive of the idea of data-sharing to improve this technology for rare-disease patients across the country.

However, she notes that if she were to offer Avery’s medical information for use in a data-sharing program, she’d want to be assured of the precautions that were in place, and she’d want to know exactly how it was being used.

“I trust the people that are running the project to have the right precautions in place. I would probably want to have a good understanding of how it’s being used and why, but I see the benefit.”

LePage aims to eventually offer families like the Quinlans those precautions.

“A lot of people are working on this. It’s an issue for the hospitals, more broadly. We’re just a small subset of this bigger problem,” said LePage.

“For sure, we’re getting more data, and the future of medicine is going to be the integration of many data sets –your electrolyte medical record, your genome trends, your drug prescribing history, maybe some lifestyle issues. All of that makes for a lot of sensitive data.”

“We’re all very conscious as we build these systems. We won’t own the provincial databases, they’ll be owned by the hospitals or the ministry of health. We have to be as good as they are. They are working separately on getting the cybersecurity around that data.”

Avery is now nine years old, and Quinlan recalls that the first four years of her life were extremely difficult. Her challenges ranged from respiratory issues to being fed through a G-tube for over two years, not being able to walk until she was four, and not saying a word until she was six.

Today, Avery loves babies and animals. She’s a passionate Girl Guides member and she looks up to her 11-year-old sister Madison, largely thanks to the genetic testing that identified her disease.

Avery Quinlan, 9.

Michelle Quinlan

Over 30,000 people will be providing genome samples to participate in the pilot program, meaning that Genome Canada will be funding the treatment’s first 30,000 patients. Part of the program’s proposal involves bolstering cybersecurity to protect patient data.

In three years, LePage and Boycott hope that precision health care, along with patients’ DNA data, will be available in hospitals and clinics across the country. The onus will then be on Canada’s health-care system to protect it.